Peutz-Jeghers syndrome
ORPHA:2869DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)5
HP:0001003Multiple lentigines
HP:0002672Gastrointestinal carcinoma
HP:0011024Abnormality of the gastrointestinal tract
HP:0012733Macule
HP:0100669Abnormal pigmentation of the oral mucosa
Частый (30–79%)1
HP:0002239Gastrointestinal hemorrhage
Периодический (5–29%)27
HP:0000069Abnormality of the ureter
HP:0000366Abnormality of the nose
HP:0001903Anemia
HP:0002013Vomiting
HP:0002027Abdominal pain
HP:0002035Rectal prolapse
HP:0002086Abnormality of the respiratory system
HP:0002664Neoplasm
HP:0003002Breast carcinoma
HP:0005214Intestinal obstruction
HP:0005244Gastrointestinal infarctions
HP:0005264Abnormality of the gallbladder
HP:0005562Multiple renal cysts
HP:0005584Renal cell carcinoma
HP:0006725Pancreatic adenocarcinoma
HP:0008675Enlarged polycystic ovaries
HP:0012126Stomach cancer
HP:0012720Neoplasm of the nose
HP:0030079Cervix cancer
HP:0100273Neoplasm of the colon
HP:0100526Neoplasm of the lung
HP:0100574Biliary tract neoplasm
HP:0100582Nasal polyposis
HP:0100644Melanonychia
HP:0100743Neoplasm of the rectum
HP:0100751Esophageal neoplasm
HP:0100833Neoplasm of the small intestine
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.2 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.4 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.65 | Uruguay | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)